Proband information


Proband id 4037
Systematic Name
(NM_004992.3:)
c.365T>C
Protein name
(NP_004983)
p.Val122Ala
Alternate systematic Name
(NM_001110792.1:)
c.401T>C
Alternate Protein name
(NP_001104262)
p.(Val134Ala)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153297670A>G
Mutation type missense
Domain MBD
Pathogenicity Unknown
Evidence of Pathogenicity
Detection NK
Extent NK
Source of DNA NK
Carrier Y
Carrier result found in proband (nephew), affected sister, not found in two unaffected sisters
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Not Rett synd.-
Reference Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MECP2 variant p.V122A: akin to the new MECP2 duplication syndrome?:McWilliam, C., Cooke, A., Lobo, D., Wanrer, J., Taylor, M., Tolmie, J.L.:Eur J Paediatr Neuro: 19592282

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.365T>C p.Val122Ala Male found in proband's affected mother and affected aunt, not in two unaffected maternal aunts Not Rett synd. 4036 Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MECP2 variant p.V122A: akin to the new MECP2 duplication syndrome?:McWilliam, C., Cooke, A., Lobo, D., Wanrer, J., Taylor, M., Tolmie, J.L.:Eur J Paediatr Neuro: 19592282
2 c.365T>C p.Val122Ala Female found in proband (nephew), affected sister, not found in two unaffected sisters Not Rett synd. 4037 Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MECP2 variant p.V122A: akin to the new MECP2 duplication syndrome?:McWilliam, C., Cooke, A., Lobo, D., Wanrer, J., Taylor, M., Tolmie, J.L.:Eur J Paediatr Neuro: 19592282
3 c.365T>C p.Val122Ala Female found in proband (son), affected sister, not found in two unaffected sisters Not Rett synd. 4038 Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MECP2 variant p.V122A: akin to the new MECP2 duplication syndrome?:McWilliam, C., Cooke, A., Lobo, D., Wanrer, J., Taylor, M., Tolmie, J.L.:Eur J Paediatr Neuro: 19592282